Canonical Allele Identifier: CA397297454
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802091G>C (hg19) chr17:g.4898796G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898796G>C , CM000679.2:g.4898796G>C GRCh38
NC_000017.10:g.4802091G>C , CM000679.1:g.4802091G>C GRCh37
NC_000017.9:g.4742870G>C NCBI36
NG_008029.2:g.9280C>G
NG_028005.1:g.70457G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1422C>G MANE Select ENSP00000497829.1:p.Phe474Leu
ENST00000649830.1:c.*58C>G ENSP00000496907.1:n.*58C>G
ENST00000652550.1:n.1148C>G
ENST00000293780.4:c.1422C>G ENSP00000293780.4:p.Phe474Leu
ENST00000572438.1:n.1108C>G
NM_000080.3:c.1422C>G NP_000071.1:p.Phe474Leu
NM_000080.4:c.1422C>G MANE Select NP_000071.1:p.Phe474Leu
XM_017024115.1:c.1386C>G XP_016879604.1:p.Phe462Leu
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